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Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes

Prenatal diagnosis, 2024-05, Vol.44 (5), p.586-594

2024

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Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1639-1645

2023

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P140: A rare phenomenon: Double trisomy rescue detected during clinical SNP microarray testing

Genetics in Medicine Open, 2024, Vol.2, p.101037, Article 101037

2024

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Current concepts in breast cancer genomics: An evidence based review by the CGC breast cancer working group

Cancer genetics, 2020-06, Vol.244, p.11-20

2020

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P592: Cytogenetic and microarray analysis of prenatally detected congenital heart defects (CHD): Diagnostic findings and variation among CHD subtypes

Genetics in Medicine Open, 2024, Vol.2, p.101498, Article 101498

2024

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P571: Detection of isodisomy utilizing SNP microarray: Frequency, ascertainment, and implications

Genetics in Medicine Open, 2024, Vol.2, p.101477, Article 101477

2024

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Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease

Circulation. Cardiovascular genetics, 2017-06, Vol.10 (3)

2017

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Integrated Analysis of HER2 Copy Number by Cytogenomic Microarray in Breast Cancers With Nonclassical In Situ Hybridization Results

American journal of clinical pathology, 2018-01, Vol.149 (2), p.135-147

2018

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O36: Moving on from cytogenetics: The evolution from squash preparations to next generation sequencing and the importance of microarray analysis

Genetics in Medicine Open, 2023, Vol.1 (1), p.100462, Article 100462

2023

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P479: Mosaicism for genome wide homozygosity identified as an incidental finding in two healthy pregnant women

Genetics in Medicine Open, 2023, Vol.1 (1), p.100526, Article 100526

2023

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Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

Neurology. Genetics, 2018-02, Vol.4 (1), p.e212-e212

2018

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Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

The Journal of heart valve disease, 2017-09, Vol.26 (5), p.569

2017

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Beyond HER2: Evaluating the Status of Additional Clinically Relevant Biomarkers in HER2-Positive Breast Cancers

Cancer genetics, 2016-06, Vol.209 (6), p.289-289

2016

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Utilization of a SNP microarray to detect uniparental disomy: Implications and outcomes

Genetics in medicine, 2024-12, Vol.26 (12), p.101275, Article 101275

2024

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Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.a002758

2018

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Retinoic acid signaling at sites of plasticity in the mature central nervous system

Journal of comparative neurology (1911), 2002-10, Vol.452 (3), p.228-241

2002

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46. Oncogenic fusion detection by next-generation sequencing

Cancer genetics, 2018-10, Vol.226-227, p.53-53

2018

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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.189-197

2017

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22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome

International journal of developmental neuroscience, 2002-06, Vol.20 (3-5), p.407-419

2002

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43. Considerations for implementation of the new ASCO/CAP guidelines for HER2 testing in the clinical laboratory

Cancer genetics, 2019-04, Vol.233-234, p.S17-S18

2019

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20. Current concepts in breast cancer genomics: An evidence based review from the Cancer Genomics Consortium (CGC) Breast Cancer Workgroup

Cancer genetics, 2018-10, Vol.226-227, p.43-44

2018

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Retinoic Acid Signaling Identifies a Distinct Precursor Population in the Developing and Adult Forebrain

The Journal of neuroscience, 2005-08, Vol.25 (33), p.7636-7647

2005

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15. Standard procedure for the curation and maintenance of cancer-specific gene lists

Cancer genetics, 2022-01, Vol.260-261, p.5-6

2022

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13 - Beyond HER2: Evaluating the Status of Additional Clinically Relevant Biomarkers in HER2-Positive Breast Cancers

Cancer genetics, 2016-06, Vol.209 (6), p.289-289

2016

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Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.1

2018

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Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

P140: A rare phenomenon: Double trisomy rescue detected during clinical SNP microarray testing

Current concepts in breast cancer genomics: An evidence based review by the CGC breast cancer working group

P592: Cytogenetic and microarray analysis of prenatally detected congenital heart defects (CHD): Diagnostic findings and variation among CHD subtypes

P571: Detection of isodisomy utilizing SNP microarray: Frequency, ascertainment, and implications

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease

Integrated Analysis of HER2 Copy Number by Cytogenomic Microarray in Breast Cancers With Nonclassical In Situ Hybridization Results

O36: Moving on from cytogenetics: The evolution from squash preparations to next generation sequencing and the importance of microarray analysis

P479: Mosaicism for genome wide homozygosity identified as an incidental finding in two healthy pregnant women

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

Beyond HER2: Evaluating the Status of Additional Clinically Relevant Biomarkers in HER2-Positive Breast Cancers

Utilization of a SNP microarray to detect uniparental disomy: Implications and outcomes

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case

Retinoic acid signaling at sites of plasticity in the mature central nervous system

46. Oncogenic fusion detection by next-generation sequencing

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome

43. Considerations for implementation of the new ASCO/CAP guidelines for HER2 testing in the clinical laboratory

20. Current concepts in breast cancer genomics: An evidence based review from the Cancer Genomics Consortium (CGC) Breast Cancer Workgroup

Retinoic Acid Signaling Identifies a Distinct Precursor Population in the Developing and Adult Forebrain

15. Standard procedure for the curation and maintenance of cancer-specific gene lists

13 - Beyond HER2: Evaluating the Status of Additional Clinically Relevant Biomarkers in HER2-Positive Breast Cancers

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

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